| 5UT | c.-53C>T | p.? | c.-53C>T | Likely benign | VALIDATED |
| | 2011-10-21 | 2011-10-25 |
| intron 1 | c.74-29T>G | p.? | c.-37 T>G | Likely benign | VALIDATED |
| | 2003-05-14 | 2007-02-08 |
| intron 1 | c.74-25G>T | p.? | c.-33G>T | Likely benign | VALIDATED |
| | 2003-05-13 | 2007-02-08 |
| intron 1 | c.74-7T>A | p.? | c.-15T>A | Likely benign | VALIDATED |
| | 2003-05-13 | 2007-02-08 |
| exon 2 | c.113G>T | p.(Arg38Met) | R38M | Uncertain significance (VUS) | VALIDATED |
| | 2007-10-29 | 2008-05-17 |
| exon 2 | c.127G>A | p.(Glu43Lys) | E43Y | Uncertain significance (VUS) | To be validated |
| | 2021-06-25 | 2021-06-25 |
| exon 2 | c.241C>G | p.(Leu81Val) | L81V | Uncertain significance (VUS) | VALIDATED |
| | 2016-10-13 | 2018-10-02 |
| exon 2 | c.271A>G | p.(Thr91Ala) | T91A | Not classified | To be validated |
| | 2021-01-11 | |
| exon 2 | c.315G>A | p.(Ala105=) | A105A | Likely benign | VALIDATED |
| | 2003-05-06 | |
| exon 2 | c.337G>A | p.(Asp113Asn) | D113N | Likely benign | VALIDATED |
| | 2004-08-05 | |
| exon 2 | c.357G>T | p.(Leu119=) | L119L | Likely benign | VALIDATED |
| | 2003-05-06 | |
| exon 2 | c.413G>A | p.(Arg138Gln) | R138Q | Likely benign | VALIDATED |
| | 2003-05-14 | |
| exon 2 | c.418G>A | p.(Ala140Thr) | A140T | Likely benign | VALIDATED |
| | 2003-05-06 | |
| exon 2 | c.460G>A | p.(Asp154Asn) | D154N | Not classified | To be validated |
| | 2019-05-13 | 2019-05-29 |
| exon 2 | c.464T>A | p.(Leu155Gln) | L155Q | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-29 |
| exon 2 | c.469T>C | p.(Trp157Arg) | W157R | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 2 | c.534C>G | p.(Ser178=) | S178S | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 3 | c.566C>T | p.(Thr189Met) | T189M | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 3 | c.567G>A | p.(Thr189=) | T189T | Likely benign | To be validated |
| | 2019-05-13 | |
| exon 3 | c.594C>G | p.(Phe198Leu) | F198L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
| exon 3 | c.619C>G | p.(Pro207Ala) | P207A | Not classified | To be validated |
| | 2024-04-09 | 2024-04-09 |
| exon 3 | c.633C>T | p.(Ala211=) | A211A | Likely benign | VALIDATED |
| | 2003-05-13 | |
| intron 3 | c.647-18_647-16delTCT | p.? | c.647-18_16 delTCT | Likely benign | VALIDATED |
| | 2012-09-27 | 2019-06-14 |
| exon 4 | c.674A>T | p.(Lys225Met) | K225M | Likely pathogenic | To be validated |
| | 2019-05-13 | |
| exon 4 | c.697C>T | p.(Gln233*) | Q233X | Uncertain significance (VUS) | PROVISIONAL |
| | 2012-10-24 | 2019-11-15 |
| exon 4 | c.703C>T | p.(Arg235Cys) | R235C | Uncertain significance (VUS) | PROVISIONAL |
| | 2003-05-13 | |
| exon 4 | c.734C>T | p.(Thr245Met) | T245M | Uncertain significance (VUS) | VALIDATED |
| | 2011-09-02 | |
| exon 4 | c.743T>G | p.(Leu248Arg) | L248R | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.802C>T | p.(Pro268Ser) | P268S/SNP5 | Likely benign | VALIDATED |
| | 2003-06-04 | 2015-07-15 |
| exon 4 | c.859C>T | p.(His287Tyr) | H287Y | Uncertain significance (VUS) | VALIDATED |
| | 2015-12-23 | 2018-08-22 |
| exon 4 | c.866A>G | p.(Asn289Ser) | N289S | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.871G>A | p.(Asp291Asn) | D291N | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.875C>T | p.(Ala292Val) | A292V | Not classified | To be validated |
| | 2019-05-13 | 2019-05-29 |
| exon 4 | c.881C>G | p.(Thr294Ser) | T294S | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.894G>A | p.(Val298=) | V298V | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
| exon 4 | c.902C>T | p.(Ala301Val) | A301V | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.931C>T | p.(Arg311Trp) | R311W | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1000C>T | p.(Arg334Trp) | R334W | Pathogenic | VALIDATED |
| | 2003-05-14 | |
| exon 4 | c.1001G>A | p.(Arg334Gln) | R334Q | Pathogenic | VALIDATED |
| | 2003-05-14 | |
| exon 4 | c.1042C>G | p.(Leu348Val) | L348V | Likely pathogenic | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1045C>T | p.(Leu349Phe) | L349F | Uncertain significance (VUS) | VALIDATED |
| | 2016-11-07 | 2018-10-02 |
| exon 4 | c.1055A>G | p.(His352Arg) | H352R | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1065G>A | p.(Trp355*) | W355X | Uncertain significance (VUS) | PROVISIONAL |
| | 2007-10-29 | 2013-02-05 |
| exon 4 | c.1070A>C | p.(Asp357Ala) | D357A | Uncertain significance (VUS) | VALIDATED |
| | 2004-08-05 | |
| exon 4 | c.1087A>T | p.(Ile363Phe) | I363F | Likely benign | VALIDATED |
| | 2004-08-05 | |
| exon 4 | c.1108C>T | p.(His370Tyr) | H343Y | Not classified | To be validated |
| | 2020-08-28 | |
| exon 4 | c.1117C>T | p.(Arg373Cys) | R373C | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1144G>A | p.(Asp382Asn) | D382N | Likely pathogenic | VALIDATED |
| | 2014-10-21 | |
| exon 4 | c.1146C>G | p.(Asp382Glu) | D382E | Likely pathogenic | VALIDATED |
| | 2004-10-04 | |
| exon 4 | c.1147G>A | p.(Glu383Lys) | E383K | Likely pathogenic | VALIDATED |
| | 2005-05-11 | |
| exon 4 | c.1148A>G | p.(Glu383Gly) | E383G | Likely pathogenic | VALIDATED |
| | 2009-01-13 | 2022-01-21 |
| exon 4 | c.1169A>T | p.(Asp390Val) | D390V | Likely pathogenic | VALIDATED |
| | 2015-04-02 | 2018-08-22 |
| exon 4 | c.1171C>T | p.(Arg391Cys) | R391C | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 4 | c.1178G>A | p.(Arg393His) | R393H | Uncertain significance (VUS) | VALIDATED |
| | 2011-09-02 | |
| exon 4 | c.1190C>T | p.(Pro397Leu) | P397L | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | |
| exon 4 | c.1241A>G | p.(Asn414Ser) | N414S | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1277G>A | p.(Arg426His) | R426H | Likely pathogenic | VALIDATED |
| | 2018-04-30 | |
| exon 4 | c.1279C>T | p.(Pro427Ser) | P427S | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
| exon 4 | c.1281G>A | p.(Pro427=) | P427P | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1292C>T | p.(Ser431Leu) | S431L | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1295C>T | p.(Ala432Val) | A432V | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1321G>A | p.(Glu441Lys) | E441K | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1366C>T | p.(Leu456=) | L456L | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1377C>T | p.(Arg459=) | R459R/SNP6 | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1387C>G | p.(Pro463Ala) | P463A | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 4 | c.1390G>T | p.(Gly464Trp) | G464W | Likely pathogenic | VALIDATED |
| | 2008-08-18 | |
| exon 4 | c.1402C>T | p.(Arg468Cys) | R468C | Likely benign | To be validated |
| | 2020-12-18 | |
| exon 4 | c.1405C>T | p.(Leu469Phe) | L469F | Likely pathogenic | VALIDATED |
| | 2003-05-14 | |
| exon 4 | c.1411C>T | p.(Arg471Cys) | R471C | Likely benign | To be validated |
| | 2019-07-11 | 2019-07-11 |
| exon 4 | c.1426A>C | p.(Thr476Pro) | T476P | Likely pathogenic | To be validated |
| | 2022-07-06 | |
| exon 4 | c.1439A>G | p.(His480Arg) | H480R | Likely pathogenic | VALIDATED |
| | 2016-12-27 | 2019-01-15 |
| exon 4 | c.1442G>A | p.(Gly481Asp) | G481D | Likely pathogenic | VALIDATED |
| | 2009-04-14 | |
| exon 4 | c.1447T>C | p.(Cys483Arg) | c.1447T>C | Likely pathogenic | To be validated |
| | 2019-03-27 | |
| exon 4 | c.1449C>G | p.(Cys483Trp) | C483W | Likely pathogenic | To be validated |
| | 2023-03-03 | |
| exon 4 | c.1469G>T | p.(Trp490Leu) | W490L | Likely pathogenic | VALIDATED |
| | 2006-01-05 | |
| exon 4 | c.1469G>C | p.(Trp490Ser) | W490S | Pathogenic | To be validated |
| | 2020-07-16 | 2021-01-22 |
| exon 4 | c.1484G>A | p.(Cys495Tyr) | C495Y | Likely pathogenic | VALIDATED |
| | 2005-05-27 | |
| exon 4 | c.1487A>T | p.(His496Leu) | H496L | Likely pathogenic | VALIDATED |
| | 2004-10-04 | |
| exon 4 | c.1493_1498del6 | p.(Glu498_Leu500delinsVal) | E498_L500delinsV | Likely pathogenic | VALIDATED |
| | 2011-09-02 | 2011-09-09 |
| exon 4 | c.1494A>C | p.(Glu498Asp) | E498D | Likely pathogenic | To be validated |
| | 2021-07-19 | |
| exon 4 | c.1502T>C | p.(Leu501Pro) | L501P | Likely pathogenic | VALIDATED |
| | 2013-05-06 | |
| exon 4 | c.1509G>A | p.(Glu503=) | E503E | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1515del | p.(Ser506Profs*11) | S506Pfs*11 | Uncertain significance (VUS) | To be validated |
| | 2020-05-18 | |
| exon 4 | c.1519C>T | p.(Pro507Ser) | P507S | Likely pathogenic | VALIDATED |
| | 2015-02-20 | |
| exon 4 | c.1529C>T | p.(Thr510Ile) | T510I | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
| exon 4 | c.1534G>C | p.(Asp512His) | D512H | Likely pathogenic | VALIDATED |
| | 2013-02-05 | |
| exon 4 | c.1534G>T | p.(Asp512Tyr) | D512Y | Not classified | To be validated |
| | 2019-04-19 | |
| exon 4 | c.1535A>T | p.(Asp512Val) | D512V | Pathogenic | To be validated |
| | 2020-07-16 | 2021-02-23 |
| exon 4 | c.1538T>G | p.(Met513Arg) | M513R | Pathogenic | VALIDATED |
| | 2011-05-17 | |
| exon 4 | c.1538T>C | p.(Met513Thr) | M513T | Likely pathogenic | VALIDATED |
| | 2004-10-04 | |
| exon 4 | c.1558C>T | p.(His520Tyr) | H520Y | Likely pathogenic | VALIDATED |
| | 2014-10-21 | |
| exon 4 | c.1581C>G | p.(Pro527=) | P527P | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1620dup | p.(Arg541Serfs*38) | R541fs | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | |
| exon 4 | c.1621C>T | p.(Arg541Trp) | R541W | Likely pathogenic | To be validated |
| | 2020-06-02 | |
| exon 4 | c.1622G>C | p.(Arg541Pro) | R541P | Uncertain significance (VUS) | To be validated |
| | 2024-08-13 | |
| exon 4 | c.1648C>G | p.(Leu550Val) | L550V | Uncertain significance (VUS) | VALIDATED |
| | 2004-08-05 | |
| exon 4 | c.1672_1677del | p.(Leu558_Gly559del) | 558DELLG | Uncertain significance (VUS) | PROVISIONAL |
| | 2003-05-13 | 2007-01-29 |
| exon 4 | c.1687T>C | p.(Tyr563His) | Y563H | Likely pathogenic | VALIDATED |
| | 2013-02-05 | |
| exon 4 | c.1759C>T | p.(Arg587Cys) | R587C | Likely pathogenic | VALIDATED |
| | 2005-05-27 | |
| exon 4 | c.1761T>G | p.(Arg587Arg) | R587R/SNP7 | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1788G>A | p.(Thr596=) | T596T | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1798G>A | p.(Glu600Lys) | E600K | Likely pathogenic | VALIDATED |
| | 2014-10-21 | |
| exon 4 | c.1799A>C | p.(Glu600Ala) | E600A | Likely pathogenic | VALIDATED |
| | 2014-10-21 | |
| exon 4 | c.1808A>G | p.(His603Arg) | H603R | Pathogenic | VALIDATED |
| | 2018-03-26 | |
| exon 4 | c.1813A>C | p.(Thr605Pro) | T605P | Likely pathogenic | VALIDATED |
| | 2004-10-04 | |
| exon 4 | c.1814C>A | p.(Thr605Asn) | T605N | Likely pathogenic | VALIDATED |
| | 2011-05-17 | |
| exon 4 | c.1833C>T | p.(Ala611=) | A611A | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.1834G>A | p.(Ala612Thr) | A612T | Uncertain significance (VUS) | PROVISIONAL |
| | 2003-05-13 | |
| exon 4 | c.1835C>T | p.(Ala612Val) | A612V | Uncertain significance (VUS) | PROVISIONAL |
| | 2003-05-13 | |
| exon 4 | c.1999G>A | p.(Glu667Lys) | E667K | Likely pathogenic | PROVISIONAL |
| | 2016-09-26 | |
| exon 4 | c.2003C>T | p.(Pro668Leu) | P668L | Uncertain significance (VUS) | VALIDATED |
| | 2015-12-23 | 2021-08-31 |
| exon 4 | c.2010C>A | p.(Asn670Lys) | N670K | Likely pathogenic | VALIDATED |
| | 2004-10-04 | |
| exon 4 | c.2021C>T | p.(Thr674Ile) | T674I | Uncertain significance (VUS) | To be validated |
| | 2024-05-15 | |
| exon 4 | c.2031C>G | p.(Phe677Leu) | F677L | Not classified | To be validated |
| | 2019-05-13 | |
| exon 4 | c.2046G>T | p.(Leu682Phe) | L682F | Uncertain significance (VUS) | PROVISIONAL |
| | 2015-12-23 | |
| exon 4 | c.2050C>T | p.(Arg684Trp) | R684W | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2051G>A | p.(Arg684Gln) | R684Q | Uncertain significance (VUS) | VALIDATED |
| | 2013-07-03 | |
| exon 4 | c.2104C>T | p.(Arg702Trp) | R702W/SNP8 | Likely benign | VALIDATED |
| | 2003-06-04 | |
| exon 4 | c.2107C>T | p.(Arg703Cys) | R703C | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2137C>T | p.(Arg713Cys) | R713C | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2138G>A | p.(Arg713His) | R713H | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 4 | c.2146C>T | p.(Arg716Cys) | R716C | Not classified | To be validated |
| | 2021-01-11 | |
| exon 4 | c.2174C>G | p.(Ala725Gly) | A725G | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2180C>T | p.(Pro727Leu) | P727L | Uncertain significance (VUS) | VALIDATED |
| | 2007-10-29 | 2008-05-17 |
| exon 4 | c.2197G>T | p.(Val733Leu) | V733L | Uncertain significance (VUS) | VALIDATED |
| | 2016-10-13 | 2018-10-02 |
| exon 4 | c.2220C>T | p.(Ile740=) | I740I | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2230C>T | p.(Arg744Trp) | R744W | Uncertain significance (VUS) | To be validated |
| | 2024-07-02 | 2024-08-12 |
| exon 4 | c.2264C>T | p.(Ala755Val) | A755V | Likely benign | VALIDATED |
| | 2003-05-13 | 2015-03-30 |
| exon 4 | c.2273C>T | p.(Ala758Val) | A758V | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2278C>T | p.(Arg760Cys) | R760C | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 4 | c.2332G>A | p.(Glu778Lys) | E778K | Uncertain significance (VUS) | PROVISIONAL |
| | 2003-05-13 | |
| exon 4 | c.2368C>T | p.(Arg790Trp) | R790W | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 4 | c.2371C>T | p.(Arg791Trp) | R791W | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 4 | c.2372G>A | p.(Arg791Gln) | R791Q | Likely benign | VALIDATED |
| | 2003-09-08 | |
| exon 4 | c.2377G>A | p.(Val793Met) | V793M | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 4 | c.2406G>T | p.(Val802=) | V802V | Likely benign | VALIDATED |
| | 2010-01-13 | |
| exon 4 | c.2425C>A | p.(Gln809Lys) | Q809K | Likely pathogenic | VALIDATED |
| | 2014-10-21 | |
| exon 4 | c.2446G>A | p.(Val816Ile) | V816I | Uncertain significance (VUS) | VALIDATED |
| | 2016-10-27 | 2018-10-02 |
| intron 4 | c.2462+10A>C | p.? | c.2462+10 A>C | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 5 | c.2470G>A | p.(Asp824Asn) | D824N | Likely benign | VALIDATED |
| | 2003-09-08 | |
| exon 5 | c.2475C>G | p.(Asn825Lys) | N825K | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| exon 5 | c.2507T>C | p.(Ile836Thr) | I836T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
| exon 5 | c.2525G>A | p.(Cys842Tyr) | C842Y | Likely benign | To be validated |
| | 2019-07-16 | |
| exon 5 | c.2527G>A | p.(Glu843Lys) | E843K | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 5 | c.2546C>T | p.(Ala849Val) | A849V | Uncertain significance (VUS) | VALIDATED |
| | 2006-05-10 | |
| intron 5 | c.2546+2dup | p.? | c.2546+2dup | Uncertain significance (VUS) | VALIDATED |
| | 2017-12-06 | |
| intron 5 | c.2547-11G>T | p.? | c.2547-11G>T | Likely benign | VALIDATED |
| | 2013-10-15 | |
| exon 6 | c.2555A>G | p.(Asn852Ser) | N852S | Uncertain significance (VUS) | PROVISIONAL |
| | 2004-08-05 | |
| exon 6 | c.2558A>G | p.(Asn853Ser) | N853S | Uncertain significance (VUS) | VALIDATED |
| | 2003-05-13 | |
| exon 6 | c.2587A>G | p.(Met863Val) | M863V | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 6 | c.2590G>A | p.(Ala864Thr) | A864T | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | |
| exon 6 | c.2619C>T | p.(Phe873=) | F873F | Likely benign | VALIDATED |
| | 2003-05-13 | |
| intron 6 | c.2630+35T>A | p.? | c.2630+35 T>A | Likely benign | VALIDATED |
| | 2003-05-13 | |
| intron 6 | c.2631-5T>C | p.? | c.2631-5 T>C | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 7 | c.2653G>C | p.(Ala885Pro) | A885P | Likely pathogenic | To be validated |
| | 2019-05-13 | 2019-05-29 |
| exon 7 | c.2653G>A | p.(Ala885Thr) | A885T | Likely benign | PROVISIONAL |
| | 2011-09-02 | |
| exon 7 | c.2656G>A | p.(Ala886Thr) | A886T | Likely benign | PROVISIONAL |
| | 2003-05-13 | |
| exon 7 | c.2686C>T | p.(Arg896*) | R896X | Uncertain significance (VUS) | PROVISIONAL |
| | 2011-09-02 | |
| exon 7 | c.2704C>A | p.(Gln902Lys) | Q902K | Likely benign | VALIDATED |
| | 2015-12-23 | |
| intron 7 | c.2715-81G>A | p.? | c.2715-81 G>A | Likely benign | VALIDATED |
| | 2003-09-08 | |
| intron 7 | c.2715-75G>A | p.? | c.2715-75 G>A | Likely benign | VALIDATED |
| | 2003-09-08 | |
| exon 8 | c.2719T>C | p.(Trp907Arg) | W907R | Uncertain significance (VUS) | VALIDATED |
| | 2007-10-29 | 2008-05-17 |
| exon 8 | c.2722G>T | p.(Gly908Cys) | G908C | Not classified | To be validated |
| | 2019-05-13 | 2019-05-29 |
| exon 8 | c.2722G>C | p.(Gly908Arg) | G908R/SNP12 | Uncertain significance (VUS) | VALIDATED |
| | 2003-06-04 | |
| exon 8 | c.2739C>T | p.(Asp913=) | D913D | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 8 | c.2740G>A | p.(Glu914Lys) | E914K | Uncertain significance (VUS) | VALIDATED |
| | 2013-08-27 | 2013-10-08 |
| exon 8 | c.2753C>A | p.(Ala918Asp) | A918D | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 8 | c.2771G>A | p.(Gly924Asp) | G924D | Likely benign | VALIDATED |
| | 2003-05-13 | |
| intron 8 | c.2798+158C>T | p.? | JW1 | Likely benign | VALIDATED |
| | 2011-09-02 | 2016-03-21 |
| exon 9 | c.2803G>A | p.(Val935Met) | V935M | Likely pathogenic | To be validated |
| | 2019-11-08 | |
| exon 9 | c.2815A>G | p.(Ile939Val) | I939V | Not classified | To be validated |
| | 2019-05-13 | 2019-05-29 |
| exon 9 | c.2817T>C | p.(Ile939=) | I939I | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 9 | c.2863G>A | p.(Val955Ile) | V955I | Likely benign | VALIDATED |
| | 2003-05-13 | |
| intron 9 | c.2883-2A>G | p.? | 2883-2A>G | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
| exon 10 | c.2897A>G | p.(His966Arg) | H966R | Uncertain significance (VUS) | To be validated |
| | 2024-05-16 | |
| exon 10 | c.2909A>G | p.(Glu970Gly) | E970G | Not classified | To be validated |
| | 2019-05-13 | |
| exon 10 | c.2914G>A | p.(Val972Ile) | V972I | Likely benign | VALIDATED |
| | 2003-05-13 | |
| exon 10 | c.2923C>T | p.(Leu975Phe) | L975V | Not classified | To be validated |
| | 2021-01-11 | |
| exon 10 | c.2925C>T | p.(Leu975=) | L975L | Likely benign | VALIDATED |
| | 2003-09-05 | |
| exon 10 | c.2933G>A | p.(Gly978Glu) | G978E | Likely benign | VALIDATED |
| | 2003-05-14 | |
| exon 4 | c.2998G>A | p.(Ala1000Thr) | c.2998G>A | Not classified | To be validated |
| | 2018-09-03 | |
| exon 11 | c.3019dupC | p.(Leu1007Profs*2) | 1007FS/SNP13 | Uncertain significance (VUS) | PROVISIONAL |
| | 2003-06-04 | 2019-06-18 |
| intron 11 | c.3051-102C>G | p.? | c.3051-102 C>G | Likely benign | VALIDATED |
| | 2003-05-14 | |
| exon 12 | c.3055C>G | p.(Arg1019Gly) | R1019G | Uncertain significance (VUS) | VALIDATED |
| | 2011-09-02 | 2011-10-12 |
| exon 12 | c.3055C>T | p.(Arg1019*) | R1019X | Uncertain significance (VUS) | PROVISIONAL |
| | 2007-10-29 | 2013-02-05 |
| exon 12 | c.3056G>T | p.(Arg1019Leu) | R1019L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
| 3UT | c.*9G>A | p.? | c.*9G>A | Likely benign | VALIDATED |
| | 2003-05-14 | |
| 3UT | c.*375G>A | p.? | c.3498G>A | Likely benign | VALIDATED |
| | 2011-10-21 | 2011-10-25 |
| 3UT | c.*873C>T | p.? | *873C>T | Likely benign | VALIDATED |
| | 2010-02-01 | 2013-02-04 |
| 3UT | c.*982T>C | p.? | c.3505C>T | Likely benign | VALIDATED |
| | 2011-10-21 | 2019-10-18 |
| 3UT | c.*1030T>C | p.? | *1030T>C | Likely benign | VALIDATED |
| | 2010-02-01 | 2013-02-04 |
| 3UT | c.*1200A>G | p.? | c.4323A>G | Likely benign | VALIDATED |
| | 2011-10-21 | 2011-10-25 |
